This website provides information on patients with Familial partial lipodystrophy type 9 (FPLD9; OMIM # 620683) due to pathogenic variants in the Phospholipase A and Acyltransferase 3 gene (PLAAT3; OMIM * 613867), including clinical data, molecular data, management and research options.

The syndrome FPLD9 is a multisystem disorder characterized by various degrees of lipodystrophy with metabolic features including insulin resistance, dyslipidaemia, hepatic steatosis, neurological features, musculoskeletal abnormalities and dysmorphisms.

All reported patients present with partial or generalized lipodystrophy, and most patients display neurological features. Not all patients, however, have musculoskeletal problems or dysmorphic features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with pathogenic variants in the PLAAT3 gene.

Bart Dermaut, MD, PhD, Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium, bart.dermaut@ugent.be

Nika Schuermans, MD, Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium, nika.schuermans@ugent.be